Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000369042 [[107386385, 107392154], [107419754, 107419957], [107420452, 107420500], [107436293, 107436473]] [[107389907, 107392154], [107419754, 107419957], [107420452, 107420489]]
ENST00000429433 [[107386400, 107392154], [107419754, 107419957], [107420452, 107420500], [107427280, 107427366], [107435083, 107435636]] [[107389907, 107392154], [107419754, 107419957], [107420452, 107420489]]
NM_001080450 [[107386384, 107392154], [107419754, 107419957], [107420452, 107420500], [107427280, 107427366], [107435083, 107435636]] [[107389907, 107392154], [107419754, 107419957], [107420452, 107420489]]
Promoter
Chrom Start End Description
chr6 107436524 107436543 CAGE_peak_5_at_BEND3_5end
chr6 107436697 107436730 CAGE_peak_2_at_BEND3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I106324 106324365 106326755 2.1 [{'connected_gene': 'ATG5', 'score': 550.77}, {'connected_gene': 'BEND3', 'score': 11.78}, {'connected_gene': 'RNU6-344P', 'score': 0.34}]
chr6 GH06I106729 106729695 106732672 1.45 [{'connected_gene': 'MIR587', 'score': 10.86}, {'connected_gene': 'LINC02532', 'score': 10.85}, {'connected_gene': 'QRSL1', 'score': 7.57}, {'connected_gene': 'BEND3', 'score': 1.23}, {'connected_gene': 'GC06M106741', 'score': 0.44}, {'connected_gene': 'LOC105377927', 'score': 0.31}]
chr6 GH06I106261 106261946 106262035 0.8 [{'connected_gene': 'BEND3', 'score': 4.61}, {'connected_gene': 'ENSG00000273744', 'score': 0.44}, {'connected_gene': 'PIR35075', 'score': 0.31}, {'connected_gene': 'ATG5', 'score': 0.21}]
chr6 GH06I106568 106566165 106566178 0.43 [{'connected_gene': 'BEND3', 'score': 3.09}, {'connected_gene': 'RTN4IP1', 'score': 1.72}, {'connected_gene': 'GC06P106541', 'score': 0.34}, {'connected_gene': 'GC06P106588', 'score': 0.34}, {'connected_gene': 'CRYBG1', 'score': 0.08}]
chr6 GH06I107453 107453649 107454067 0.43 [{'connected_gene': 'BEND3', 'score': 1.26}, {'connected_gene': 'PIR39325', 'score': 0.77}, {'connected_gene': 'PDSS2', 'score': 0.44}, {'connected_gene': 'GC06P107406', 'score': 0.25}]
chr6 GH06I106509 106509487 106517200 2.38 [{'connected_gene': 'BEND3', 'score': 20.41}, {'connected_gene': 'SOBP', 'score': 20.03}, {'connected_gene': 'ATG5', 'score': 19.43}, {'connected_gene': 'CRYBG1', 'score': 12.85}, {'connected_gene': 'QRSL1', 'score': 9.18}, {'connected_gene': 'LOC101927405', 'score': 0.39}, {'connected_gene': 'GC06P106528', 'score': 0.37}]
chr6 GH06I107633 107633776 107635540 0.43 [{'connected_gene': 'BEND3', 'score': 11.79}, {'connected_gene': 'GC06P107632', 'score': 0.77}, {'connected_gene': 'PIR51849', 'score': 0.34}, {'connected_gene': 'SOBP', 'score': 0.11}]
chr6 GH06I107654 107654615 107659914 1.75 [{'connected_gene': 'BEND3', 'score': 11.78}, {'connected_gene': 'PIR51849', 'score': 0.77}, {'connected_gene': 'GC06P107632', 'score': 0.34}, {'connected_gene': 'SOBP', 'score': 0.1}]
chr6 GH06I106761 106761256 106761269 0.33 [{'connected_gene': 'BEND3', 'score': 1.2}, {'connected_gene': 'RNU6-117P', 'score': 0.34}, {'connected_gene': 'GC06P106787', 'score': 0.34}, {'connected_gene': 'LINC02532', 'score': 0.31}, {'connected_gene': 'GC06M106747', 'score': 0.25}]
chr6 GH06I107113 107113482 107117310 2.23 [{'connected_gene': 'BEND3', 'score': 550.77}, {'connected_gene': 'RNU6-1299P', 'score': 0.37}]
chr6 GH06I107118 107118577 107119436 0.74 [{'connected_gene': 'BEND3', 'score': 0.77}, {'connected_gene': 'RNU6-1299P', 'score': 0.39}]
chr6 GH06I107105 107105347 107106903 0.63 [{'connected_gene': 'BEND3', 'score': 0.44}, {'connected_gene': 'GC06M107103', 'score': 0.31}]
chr6 GH06I107083 107083537 107084569 0.57 [{'connected_gene': 'BEND3', 'score': 12.15}, {'connected_gene': 'GC06M107103', 'score': 0.77}]
chr6 GH06I107101 107101854 107103613 0.58 [{'connected_gene': 'BEND3', 'score': 0.39}, {'connected_gene': 'GC06M107103', 'score': 0.34}]
chr6 GH06I107108 107108579 107108638 0.88 [{'connected_gene': 'BEND3', 'score': 550.44}, {'connected_gene': 'GC06M107103', 'score': 0.31}]
chr6 GH06I106599 106599203 106599468 0.42 [{'connected_gene': 'QRSL1', 'score': 15.42}, {'connected_gene': 'BEND3', 'score': 4.17}, {'connected_gene': 'GC06P106608', 'score': 0.44}, {'connected_gene': 'GC06P106588', 'score': 0.39}, {'connected_gene': 'RTN4IP1', 'score': 0.29}]
chr6 GH06I107124 107124537 107125747 0.69 [{'connected_gene': 'RNU6-1299P', 'score': 0.44}, {'connected_gene': 'BEND3', 'score': 0.44}]
chr6 GH06I107067 107067657 107067806 0.38 [{'connected_gene': 'PIR37934', 'score': 550.77}, {'connected_gene': 'PIR52349', 'score': 550.77}, {'connected_gene': 'PIR38225', 'score': 550.77}, {'connected_gene': 'PIR49317', 'score': 550.77}, {'connected_gene': 'GC06M107104', 'score': 550.77}, {'connected_gene': 'PIR31617', 'score': 550.77}, {'connected_gene': 'PIR44411', 'score': 550.77}, {'connected_gene': 'BEND3', 'score': 0.25}]
chr6 GH06I107073 107073937 107074086 0.2 [{'connected_gene': 'PIR35598', 'score': 0.77}, {'connected_gene': 'GC06M107103', 'score': 0.44}, {'connected_gene': 'BEND3', 'score': 0.26}]
chr6 GH06I107064 107064517 107065216 0.89 [{'connected_gene': 'PIR52349', 'score': 550.77}, {'connected_gene': 'PIR49317', 'score': 550.77}, {'connected_gene': 'C6orf203', 'score': 0.28}, {'connected_gene': 'BEND3', 'score': 0.23}]